ArticleProceedings of the National Academy of Sciences of the United States of America2011
High-quality DNA sequence capture of 524 disease candidate genes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
31 citing papers in PubMed, 59 citations in OpenAlex.
- An optimized ligation-mediated PCR method for chromosome walking and fusion gene chromosomal breakpoints identification.Biology methods & protocols · 2024Article
- Massively parallel DNA target capture using long adapter single stranded oligonucleotide (LASSO) probes assembled through a novel DNA recombinase mediated methodology.Biotechnology journal · 2022Article
- Development and application of the Faba_bean_130K targeted next-generation sequencing SNP genotyping platform based on transcriptome sequencing.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2021Article
- Retrospective cell lineage reconstruction in humans by using short tandem repeats.Cell reports methods · 2021Article
- Computational Simulation of Adapter Length-Dependent LASSO Probe Capture Efficiency.Biomolecules · 2019Article
- Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.Frontiers in neurology · 2019Article
- Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Liquid-phase sequence capture and targeted re-sequencing revealed novel polymorphisms in tomato genes belonging to the MEP carotenoid pathway.Scientific reports · 2017Article
- Long-adapter single-strand oligonucleotide probes for the massively multiplexed cloning of kilobase genome regions.Nature biomedical engineering · 2017Article
- Targeted next-generation sequencing for the detection of ciprofloxacin resistance markers using molecular inversion probes.Scientific reports · 2016Article
- A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.Circulation research · 2015Article
- Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Review
- Article
- Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.International journal of clinical and experimental medicine · 2015Article
- How Can Next-Generation Sequencing (Genomics) Help Us in Treating Colorectal Cancer?Current colorectal cancer reports · 2014Article
- MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing.Bioinformatics (Oxford, England) · 2014Article
- Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.Orphanet journal of rare diseases · 2014Article
- Ancestry estimation and control of population stratification for sequence-based association studies.Nature genetics · 2014Article
- Development and evaluation of a panel of filovirus sequence capture probes for pathogen detection by next-generation sequencing.PloS one · 2014Article
- The promise of whole-exome sequencing in medical genetics.Journal of human genetics · 2014Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
The accurate and complete selection of candidate genomic regions from a DNA sample before sequencing is critical in molecular diagnostics. Several recently developed technologies await substantial improvements in performance, cost, and multiplex sample processing. Here we present the utility of long padlock probes (LPPs) for targeted exon capture followed by array-based sequencing. We found that on average 92% of 5,471 exons from 524 nuclear-encoded mitochondrial genes were successfully amplified from genomic DNA from 63 individuals. Only 144 exons did not amplify in any sample due to high GC content. One LPP was sufficient to capture sequences from <100-500 bp in length and only a single-tube capture reaction and one microarray was required per sample. Our approach was highly reproducible and quick (<8 h) and detected DNA variants at high accuracy (false discovery rate 1%, false negative rate 3%) on the basis of known sample SNPs and Sanger sequence verification. In a patient with clinical and biochemical presentation of ornithine transcarbamylase (OTC) deficiency, we identified copy-number differences in the OTC gene at exon-level resolution. This shows the ability of LPPs to accurately preserve a sample's genome information and provides a cost-effective strategy to identify both single nucleotide changes and structural variants in targeted resequencing.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.